2. Understand the kind of services a clinical geneticist can provide. (p.697)
3. Understand the main principlesof clincal genetics. (p.696)
4. Appreciate the importance of an accurate diagnosis. (p.697)
5. Define and describe dysmorphology and its general features, categories of congenital defects, and indicators of congenital malformations. (p.698, 699)
6a. Describe the general features, clinical presentation, genetic defect, pathology, and treatment for achondroplasia.
6b. Describe the general features, clinical presentation, genetic defect, pathology, and treatment for Marfan Syndrome.
Objectives
1. Define clinical genetics. (p.696)
2. Understand the kind of services a clinical geneticist can provide. (p.697)
3. Understand the main principlesof clincal genetics. (p.696)
4. Appreciate the importance of an accurate diagnosis. (p.697)
5. Define and describe dysmorphology and its general features, categories of congenital defects, and indicators of congenital malformations. (p.698, 699)
6a. Describe the general features, clinical presentation, genetic defect, pathology, and treatment for achondroplasia.
6b. Describe the general features, clinical presentation, genetic defect, pathology, and treatment for Marfan Syndrome.